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image/svg+xml Jakob Voss, based on art designer at PLoS, modified by Wikipedia users Nina and Beao Closed Access logo, derived from PLoS Open Access logo. This version with transparent background. http://commons.wikimedia.org/wiki/File:Closed_Access_logo_transparent.svg Jakob Voss, based on art designer at PLoS, modified by Wikipedia users Nina and Beao Fertility and Steril...arrow_drop_down
image/svg+xml Jakob Voss, based on art designer at PLoS, modified by Wikipedia users Nina and Beao Closed Access logo, derived from PLoS Open Access logo. This version with transparent background. http://commons.wikimedia.org/wiki/File:Closed_Access_logo_transparent.svg Jakob Voss, based on art designer at PLoS, modified by Wikipedia users Nina and Beao
Fertility and Sterility
Article . 2012 . Peer-reviewed
License: Elsevier Non-Commercial
Data sources: Crossref
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AZFb microdeletions and oligozoospermia—which mechanisms?

Authors: Ana Rita, Soares; Paula, Costa; Joaquina, Silva; Mário, Sousa; Alberto, Barros; Susana, Fernandes;

AZFb microdeletions and oligozoospermia—which mechanisms?

Abstract

To characterize the deletion patterns and its breakpoints in oligozoospermic patients presenting AZFb and AZFc microdeletions and to understand the recombination mechanisms underlying these microdeletions.Case report.Genetics Department of Faculty of Medicine of Porto, Porto, Portugal.Two men with severe oligozoospermia and two men with nonobstructive azoospermia identified as having different AZFb+c deletion patterns via Y chromosome microdeletion analysis.Definition of microdeletions and the fine characterization of the respective breakpoints by sequence-tagged sites (STS) polymerase chain reaction (PCR) and single-nucleotide variant (SNV) PCR.Study of the fine structure of the Y-chromosome and discussion of the putative mechanisms involved in each microdeletion pattern.From the four patients studied, three deletion patterns were identified: IR4/distal-P2 (25%; 1 of 4), P5/proximal-P1 (50%; 2 of 4), and P5/distal-P1 (25%; 1 of 4). Although severe oligozoospermia is normally associated with AZFc, a complete AZFb deletion was found in one case.Analysis of these patients has revealed a new putative region that may be involved in spermatogenesis conservation.

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Keywords

Adult, Male, Recombination, Genetic, Chromosomes, Human, Y, Reproductive Techniques, Assisted, Oligospermia, Middle Aged, Polymerase Chain Reaction, Polymorphism, Single Nucleotide, Severity of Illness Index, Chromosome Breakpoints, Fertility, Phenotype, Karyotyping, Humans, Genetic Predisposition to Disease, Chromosome Deletion, Infertility, Male, Sex Chromosome Aberrations, Sequence Tagged Sites

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selected citations
These citations are derived from selected sources.
This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Citations provided by BIP!
popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
BIP!Popularity provided by BIP!
influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Influence provided by BIP!
impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
BIP!Impulse provided by BIP!
47
Top 10%
Top 10%
Top 10%
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